Canonical Allele Identifier: CA2242478237
Community Standard Title: NC_000017.11:g.752680G=
Gene: DBIL5P HGNC NCBI
GEMIN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.752680G= , CM000679.2:g.752680G= GRCh38
NC_000017.10:g.655920G= , CM000679.1:g.655920G= GRCh37
NC_000017.9:g.602670G= NCBI36
NG_046938.1:g.5193C=

Transcript Alleles

HGVS Amino-acid Change
NR_024120.2:n.348G= (DBIL5P)
ENST00000449830.5:n.14G= (DBIL5P)
ENST00000536214.1:n.21G= (DBIL5P)
ENST00000570364.5:c.-137C= (GEMIN4) ENSP00000461103.1:n.-137C=
ENST00000576383.1:c.-24+1279C= (GEMIN4) ENSP00000461368.1:n.-24+1279C=
XM_005256670.3:c.-86C= (GEMIN4) XP_005256727.1:n.-86C=
XM_005256670.5:c.-86C= (GEMIN4) XP_005256727.1:n.-86C=
XM_011523911.1:c.-137C= (GEMIN4) XP_011522213.1:n.-137C=
XM_011523911.2:c.-137C= (GEMIN4) XP_011522213.1:n.-137C=
XM_017024709.1:c.-389C= (GEMIN4) XP_016880198.1:n.-389C=